1 |
Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome.
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61
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Yeetong P...Shotelersuk V
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19842205 |
2009 |
2 |
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.
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54
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de Medeiros F...Jakobsen LP
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18478600 |
2008 |
3 |
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
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54
6
56
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Kondo S...Murray JC
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12219090 |
2002 |
4 |
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.
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56
6
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Malik S...Naz S
|
20184620 |
2010 |
5 |
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.
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6
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Ghassibe M...Vikkula M
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14757865 |
2004 |
6 |
Novel mutations in the IRF6 gene for Van der Woude syndrome.
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61
6
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Wang X...Kong X
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12920575 |
2003 |
7 |
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.
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6
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Kayano S...Matsubara Y
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14618417 |
2003 |
8 |
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.
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61
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Fakhouri WD...Schutte BC
|
24442519 |
2014 |
9 |
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
6
61
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Peyrard-Janvid M...Schutte BC
|
24360809 |
2014 |
10 |
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.
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6
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Rorick NK...Schutte BC
|
21574244 |
2011 |
11 |
Abnormal brain structure in adults with Van der Woude syndrome.
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56
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Nopoulos P...Schutte B
|
17539900 |
2007 |
12 |
IRF6-Related Disorders
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61
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Schutte BC...Leslie E
|
20301581 |
2003 |
13 |
Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).
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61
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Houdayer C...Bahuau M
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11746036 |
2001 |
14 |
Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41.
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61
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Watanabe Y...Schutte BC
|
11668635 |
2001 |
15 |
Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.
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61
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Koillinen H...Kere J
|
11781685 |
2001 |
16 |
Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome.
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61
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Wong FK...Kere J
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11303516 |
2001 |
17 |
Report of two cases with Van der Woude syndrome: a child and her mother.
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56
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Kocer U...Karaaslan O
|
11837602 |
2001 |
18 |
1q32-q41 microdeletion with reference to Van der Woude syndrome and allied clefting entities.
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56
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Houdayer C...Bahuau M
|
10748420 |
2000 |
19 |
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32.
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61
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Lees MM...Chitty L
|
10593995 |
1999 |
20 |
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1.
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56
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Sertie AL...Passos-Bueno MR
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10417286 |
1999 |
21 |
Confirmation of linkage of Van der Woude syndrome to chromosome 1q32: evidence of association with STR alleles suggests possible unique origin of the disease mutation.
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56
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Beiraghi S...Diehl SR
|
10589394 |
1999 |
22 |
Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.
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61
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Schutte BC...Murray JC
|
10323740 |
1999 |
23 |
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.
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56
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Houdayer C...Bahuau M
|
10434119 |
1999 |
24 |
Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41.
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56
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Schutte BC...Murray JC
|
8884274 |
1996 |
25 |
Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome.
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61
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Sander A...Murray J
|
8069301 |
1994 |
26 |
Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq.
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61
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Murray JC...Harkness EM
|
2309700 |
1990 |
27 |
Linkage studies in a pedigree with Van der Woude syndrome.
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61
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Wienker TF...Bender K
|
3572998 |
1987 |
28 |
Lip pits and deletion 1q32----41.
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61
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Bocian M...Walker AP
|
3812594 |
1987 |
29 |
van der Woude syndrome in two families in China.
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56
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Burdick AB...Gao NN
|
3429616 |
1987 |
30 |
The Van der Woude syndrome (dominantly inherited lip pits and clefts).
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56
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Schinzel A...Klausler M
|
3746828 |
1986 |
31 |
Genetic analysis in families with van der Woude syndrome.
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56
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Burdick AB...Puckett CL
|
4019732 |
1985 |
32 |
Correlations between microforms of the Van der Woude syndrome and cleft palate.
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56
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Ranta R...Rintala AE
|
6573981 |
1983 |
33 |
The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks.
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56
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Janku P...Edgerton MT
|
7395906 |
1980 |
34 |
The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling.
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61
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Shprintzen RJ...Sidoti EJ
|
6928118 |
1980 |
35 |
Linkage studies in Van der Woude syndrome.
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61
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Eastman JR...Escobar V
|
671486 |
1978 |
36 |
Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance.
56
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Birnbaum S...Mangold E
|
18247422 |
2008 |
37 |
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.
6
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Peyrard-Janvid M...Kere J
|
16160700 |
2005 |
38 |
Structural brain abnormalities in adult males with clefts of the lip and/or palate.
56
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Nopoulos P...Andreasen NC
|
11839951 |
2002 |
39 |
Lip pits and congenital absence of second premolars: varied expression of the Lip Pits syndrome.
56
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Schneider EL
|
4272740 |
1973 |
40 |
Congenital lower lip sinuses with cleft palate.
56
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Bowers DG
|
5411896 |
1970 |
41 |
The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations.
56
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Cervenka J...Anderson VE
|
6026934 |
1967 |
42 |
A FAMILY WITH BILATERAL CONGENITAL PITS OF THE INFERIOR LIP.
56
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BAKER BR
|
14198088 |
1964 |
43 |
[Twins in a family with lower lip malformation].
56
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LEVY J
|
14464774 |
1962 |
44 |
Fistula labii inferioris congenita and its association with cleft lip and palate.
56
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VAN DER WOUDE A
|
13158329 |
1954 |
45 |
Dominant inheritance of cleft lip and palate in five generations.
56
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TEST AR...FALLS HF
|
18897035 |
1947 |
46 |
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
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54
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Ferrero GB...Silengo MC
|
19536562 |
2010 |
47 |
Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India.
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61
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Ali A...Raman R
|
19929101 |
2009 |
48 |
The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population.
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54
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Diercks GR...Haddad J
|
19536891 |
2009 |
49 |
Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure.
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61
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Donepudi SK...Thompson JW
|
19368978 |
2009 |
50 |
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
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54
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de Lima RL...Schutte BC
|
19282774 |
2009 |